{
  "url": "https://dantelabs.com/sv/genes/spib",
  "gene": {
    "slug": "spib",
    "symbol": "SPIB",
    "name": "Spi-B transcription factor",
    "hgnc": "HGNC:11242",
    "summary": null,
    "location": "19q13.33",
    "locusType": "gene with protein product",
    "aliases": [
      "SPI-B"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000269404",
    "entrezId": 6689,
    "omim": [
      "606802"
    ],
    "uniprot": [
      "Q01892"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "19",
      "start": 50418938,
      "end": 50431314,
      "strand": "+",
      "ensemblTranscript": "ENST00000595883.6",
      "refseqTranscript": "NM_003121.5",
      "ensemblProtein": "ENSP00000471921.1",
      "refseqProtein": "NP_003112.2",
      "exons": [
        {
          "start": 50418938,
          "end": 50418985
        },
        {
          "start": 50419946,
          "end": 50419973
        },
        {
          "start": 50422473,
          "end": 50422545
        },
        {
          "start": 50422823,
          "end": 50423037
        },
        {
          "start": 50423605,
          "end": 50423755
        },
        {
          "start": 50428038,
          "end": 50431314
        }
      ],
      "cds": {
        "start": 50418963,
        "end": 50428336
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "19",
      "start": 50922195,
      "end": 50934570,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 49925126,
      "end": 50925125,
      "genes": [
        {
          "symbol": "IL4I1",
          "ensemblId": "ENSG00000104951",
          "biotype": "protein_coding",
          "start": 49889654,
          "end": 49929926,
          "strand": "-",
          "slug": "il4i1"
        },
        {
          "symbol": "NUP62",
          "ensemblId": "ENSG00000213024",
          "biotype": "protein_coding",
          "start": 49906825,
          "end": 49929926,
          "strand": "-",
          "slug": "nup62"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000269179",
          "biotype": "protein_coding",
          "start": 49909501,
          "end": 49958391,
          "strand": "-"
        },
        {
          "symbol": "ATF5",
          "ensemblId": "ENSG00000169136",
          "biotype": "protein_coding",
          "start": 49923910,
          "end": 49933935,
          "strand": "+",
          "slug": "atf5"
        },
        {
          "symbol": "SIGLEC11",
          "ensemblId": "ENSG00000161640",
          "biotype": "protein_coding",
          "start": 49948910,
          "end": 49961172,
          "strand": "-",
          "slug": "siglec11"
        },
        {
          "symbol": "SIGLEC16",
          "ensemblId": "ENSG00000161643",
          "biotype": "protein_coding",
          "start": 49969600,
          "end": 49975819,
          "strand": "+",
          "slug": "siglec16"
        },
        {
          "symbol": "VRK3",
          "ensemblId": "ENSG00000105053",
          "biotype": "protein_coding",
          "start": 49974537,
          "end": 50025946,
          "strand": "-",
          "slug": "vrk3"
        },
        {
          "symbol": "ZNF473",
          "ensemblId": "ENSG00000142528",
          "biotype": "protein_coding",
          "start": 50025714,
          "end": 50053414,
          "strand": "+",
          "slug": "znf473"
        },
        {
          "symbol": "IZUMO2",
          "ensemblId": "ENSG00000161652",
          "biotype": "protein_coding",
          "start": 50152537,
          "end": 50163281,
          "strand": "-",
          "slug": "izumo2"
        },
        {
          "symbol": "MYH14",
          "ensemblId": "ENSG00000105357",
          "biotype": "protein_coding",
          "start": 50188181,
          "end": 50310545,
          "strand": "+",
          "slug": "myh14"
        },
        {
          "symbol": "KCNC3",
          "ensemblId": "ENSG00000131398",
          "biotype": "protein_coding",
          "start": 50311937,
          "end": 50333515,
          "strand": "-",
          "slug": "kcnc3"
        },
        {
          "symbol": "NR1H2",
          "ensemblId": "ENSG00000131408",
          "biotype": "protein_coding",
          "start": 50329639,
          "end": 50383404,
          "strand": "+",
          "slug": "nr1h2"
        },
        {
          "symbol": "NAPSA",
          "ensemblId": "ENSG00000131400",
          "biotype": "protein_coding",
          "start": 50358472,
          "end": 50369342,
          "strand": "-",
          "slug": "napsa"
        },
        {
          "symbol": "POLD1",
          "ensemblId": "ENSG00000062822",
          "biotype": "protein_coding",
          "start": 50384204,
          "end": 50418018,
          "strand": "+",
          "slug": "pold1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000142539",
          "biotype": "protein_coding",
          "start": 50415799,
          "end": 50428409,
          "strand": "+"
        },
        {
          "symbol": "MYBPC2",
          "ensemblId": "ENSG00000086967",
          "biotype": "protein_coding",
          "start": 50432772,
          "end": 50466328,
          "strand": "+",
          "slug": "mybpc2"
        },
        {
          "symbol": "GARIN5A",
          "ensemblId": "ENSG00000142530",
          "biotype": "protein_coding",
          "start": 50466785,
          "end": 50476866,
          "strand": "-",
          "slug": "garin5a"
        },
        {
          "symbol": "EMC10",
          "ensemblId": "ENSG00000161671",
          "biotype": "protein_coding",
          "start": 50476400,
          "end": 50510789,
          "strand": "+",
          "slug": "emc10"
        },
        {
          "symbol": "JOSD2",
          "ensemblId": "ENSG00000161677",
          "biotype": "protein_coding",
          "start": 50505995,
          "end": 50511376,
          "strand": "-",
          "slug": "josd2"
        },
        {
          "symbol": "ASPDH",
          "ensemblId": "ENSG00000204653",
          "biotype": "protein_coding",
          "start": 50511568,
          "end": 50514696,
          "strand": "-",
          "slug": "aspdh"
        },
        {
          "symbol": "LRRC4B",
          "ensemblId": "ENSG00000131409",
          "biotype": "protein_coding",
          "start": 50516892,
          "end": 50568435,
          "strand": "-",
          "slug": "lrrc4b"
        },
        {
          "symbol": "SYT3",
          "ensemblId": "ENSG00000213023",
          "biotype": "protein_coding",
          "start": 50621307,
          "end": 50640040,
          "strand": "-",
          "slug": "syt3"
        },
        {
          "symbol": "C19orf81",
          "ensemblId": "ENSG00000235034",
          "biotype": "protein_coding",
          "start": 50648792,
          "end": 50659310,
          "strand": "+",
          "slug": "c19orf81"
        },
        {
          "symbol": "SHANK1",
          "ensemblId": "ENSG00000161681",
          "biotype": "protein_coding",
          "start": 50659255,
          "end": 50719802,
          "strand": "-",
          "slug": "shank1"
        },
        {
          "symbol": "CLEC11A",
          "ensemblId": "ENSG00000105472",
          "biotype": "protein_coding",
          "start": 50723283,
          "end": 50725719,
          "strand": "+",
          "slug": "clec11a"
        },
        {
          "symbol": "GPR32",
          "ensemblId": "ENSG00000142511",
          "biotype": "protein_coding",
          "start": 50770464,
          "end": 50771732,
          "strand": "+",
          "slug": "gpr32"
        },
        {
          "symbol": "SMIM47",
          "ensemblId": "ENSG00000261341",
          "biotype": "protein_coding",
          "start": 50776141,
          "end": 50793142,
          "strand": "-",
          "slug": "smim47"
        },
        {
          "symbol": "ACP4",
          "ensemblId": "ENSG00000142513",
          "biotype": "protein_coding",
          "start": 50790415,
          "end": 50795219,
          "strand": "+",
          "slug": "acp4"
        },
        {
          "symbol": "KLK1",
          "ensemblId": "ENSG00000167748",
          "biotype": "protein_coding",
          "start": 50819146,
          "end": 50823787,
          "strand": "-",
          "slug": "klk1"
        },
        {
          "symbol": "KLK15",
          "ensemblId": "ENSG00000174562",
          "biotype": "protein_coding",
          "start": 50825289,
          "end": 50837213,
          "strand": "-",
          "slug": "klk15"
        },
        {
          "symbol": "KLK3",
          "ensemblId": "ENSG00000142515",
          "biotype": "protein_coding",
          "start": 50854915,
          "end": 50860767,
          "strand": "+",
          "slug": "klk3"
        },
        {
          "symbol": "KLK2",
          "ensemblId": "ENSG00000167751",
          "biotype": "protein_coding",
          "start": 50861568,
          "end": 50880567,
          "strand": "+",
          "slug": "klk2"
        },
        {
          "symbol": "KLK4",
          "ensemblId": "ENSG00000167749",
          "biotype": "protein_coding",
          "start": 50906351,
          "end": 50911395,
          "strand": "-",
          "slug": "klk4"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-distention",
        "name": "Abdominal bloating",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abdominal-distention"
      },
      {
        "slug": "abnormal-circulating-lipid-concentration",
        "name": "Abnormal circulating lipid concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-lipid-concentration"
      },
      {
        "slug": "abnormal-intrahepatic-bile-duct-morphology",
        "name": "Abnormal intrahepatic bile duct morphology",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-intrahepatic-bile-duct-morphology"
      },
      {
        "slug": "abnormality-of-the-thyroid-gland",
        "name": "Abnormality of the thyroid gland",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-thyroid-gland"
      },
      {
        "slug": "ascites",
        "name": "Accumulation of fluid in the abdomen",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ascites"
      },
      {
        "slug": "antimitochondrial-antibody-positivity",
        "name": "Antimitochondrial antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/antimitochondrial-antibody-positivity"
      },
      {
        "slug": "antinuclear-antibody-positivity",
        "name": "Antinuclear antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/antinuclear-antibody-positivity"
      },
      {
        "slug": "autoimmunity",
        "name": "Autoimmunity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/autoimmunity"
      },
      {
        "slug": "biliary-cirrhosis",
        "name": "Biliary cirrhosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/biliary-cirrhosis"
      },
      {
        "slug": "celiac-disease",
        "name": "Celiac disease",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/celiac-disease"
      },
      {
        "slug": "conjugated-hyperbilirubinemia",
        "name": "Conjugated hyperbilirubinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/conjugated-hyperbilirubinemia"
      },
      {
        "slug": "orthostatic-hypotension",
        "name": "Decrease in blood pressure upon standing up",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/orthostatic-hypotension"
      },
      {
        "slug": "sleep-disturbance",
        "name": "Difficulty sleeping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sleep-disturbance"
      },
      {
        "slug": "elevated-circulating-alkaline-phosphatase-concentration",
        "name": "Elevated alkaline phosphatase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-alkaline-phosphatase-concentration"
      },
      {
        "slug": "elevated-gamma-glutamyltransferase-level",
        "name": "Elevated gamma-glutamyltransferase level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-gamma-glutamyltransferase-level"
      },
      {
        "slug": "hypercholesterolemia",
        "name": "Elevated serum cholesterol",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypercholesterolemia"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "esophageal-varix",
        "name": "Enlarged vein in esophagus",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/esophageal-varix"
      },
      {
        "slug": "excessive-daytime-somnolence",
        "name": "Excessive daytime sleepiness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/excessive-daytime-somnolence"
      },
      {
        "slug": "steatorrhea",
        "name": "Fat in feces",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/steatorrhea"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "xanthelasma",
        "name": "Fatty deposits in skin around the eyes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/xanthelasma"
      },
      {
        "slug": "gastrointestinal-inflammation",
        "name": "Gastrointestinal inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/gastrointestinal-inflammation"
      },
      {
        "slug": "hepatic-encephalopathy",
        "name": "Hepatic encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatic-encephalopathy"
      },
      {
        "slug": "hepatic-fibrosis",
        "name": "Hepatic fibrosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatic-fibrosis"
      },
      {
        "slug": "hepatocellular-carcinoma",
        "name": "Hepatocellular carcinoma",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatocellular-carcinoma"
      },
      {
        "slug": "increased-circulating-iga-concentration",
        "name": "Increased circulating IgA concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-circulating-iga-concentration"
      },
      {
        "slug": "increased-circulating-igm-concentration",
        "name": "Increased circulating IgM concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-igm-concentration"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "pruritus",
        "name": "Itching",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pruritus"
      },
      {
        "slug": "jaundice",
        "name": "Jaundice",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/jaundice"
      },
      {
        "slug": "hepatic-failure",
        "name": "Liver failure",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatic-failure"
      },
      {
        "slug": "hepatitis",
        "name": "Liver inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatitis"
      },
      {
        "slug": "hypoalbuminemia",
        "name": "Low albumin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoalbuminemia"
      },
      {
        "slug": "osteoporosis",
        "name": "Osteoporosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteoporosis"
      },
      {
        "slug": "hyperpigmentation-of-the-skin",
        "name": "Patchy darkened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperpigmentation-of-the-skin"
      },
      {
        "slug": "portal-hypertension",
        "name": "Portal hypertension",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/portal-hypertension"
      },
      {
        "slug": "recurrent-fungal-infections",
        "name": "Recurrent fungal infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-fungal-infections"
      },
      {
        "slug": "cirrhosis",
        "name": "Scar tissue replaces healthy tissue in the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cirrhosis"
      },
      {
        "slug": "dermatographic-urticaria",
        "name": "Skin writing",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dermatographic-urticaria"
      },
      {
        "slug": "unusual-fungal-nail-infection",
        "name": "Unusual fungal nail infection",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/unusual-fungal-nail-infection"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}